Extracellular matrix protein FRAS1

Kiyozumi D et al. (2006) Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

Darling S et al. (1994) A mouse model for Fraser syndrome?

McGregor L et al. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

Vrontou S et al. (2003) Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

Slavotinek A et al. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

Cavalcanti DP et al. (2007) Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.

van Haelst MM et al. (2008) Molecular study of 33 families with Fraser syndrome new data and mutation review.

Petrou P et al. (2005) Basement membrane distortions impair lung lobation and capillary organization in the mouse model for fraser syndrome.

Pitera JE et al. (2008) Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.

Orphanet article

NCBI article

OMIM.ORG article

Wikipedia article